SLC22A9
Homo sapiens
Gene Name: solute carrier family 22 member 9
Aliases: HOAT4, OAT4, OAT7, UST3H, ust3
Chromosome No: 11
Chromosome Band: 11q12.3
Genetic Category: Rare single gene variant-
Aliases: HOAT4, OAT4, OAT7, UST3H, ust3
Chromosome No: 11
Chromosome Band: 11q12.3
Genetic Category: Rare single gene variant-
Summary Statistics:
ASD Reports: 6
Recent Reports: 1
Annotated variants: 6
Associated CNVs: 2
Evidence score: 2
ASD Reports: 6
Recent Reports: 1
Annotated variants: 6
Associated CNVs: 2
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Two de novo variants (a missense variant and a synonymous variant predicted in PMID 26938441 to affect splicing regulation by altering an exonic splicing regulator) were observed in the SLC22A9 gene in ASD probands from the Simons Simplex Collection (Sanders et al., 2012; O'Roak et al., 2012). Evaluation of the statistical significance of observing multiple functional de novo variants in this gene, taking into account gene length and local sequence context to determine the expected number of variants, generated a p-value of 6.35E-04 (Takata et al., 2016).
Molecular Function
This gene encodes for a sodium-independent organic anion transporter which exhibits high specificity for sulfated conjugates of xenobiotics and steroid hormones.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
ASD
Support
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Recent Recommendation
De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN809R003
frameshift_variant
c.933_934del
p.Asp313HisfsTer27
Familial
Paternal
Multiplex
GEN809R005
frameshift_variant
c.23del
p.Gly8ValfsTer66
Familial
Paternal
Multiplex
GEN809R006
frameshift_variant
c.23del
p.Gly8ValfsTer66
Familial
Paternal
Multiplex
Common
No Common Variants Available
